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BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 [ Homo sapiens (human) ]

Gene ID: 63915, updated on 24-Nov-2020

Summary

Official Symbol
BLOC1S5provided by HGNC
Official Full Name
biogenesis of lysosomal organelles complex 1 subunit 5provided by HGNC
Primary source
HGNC:HGNC:18561
See related
Ensembl:ENSG00000188428 MIM:607289
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MU; BLOS5; MUTED
Summary
This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]
Expression
Ubiquitous expression in kidney (RPKM 8.1), thyroid (RPKM 6.2) and 25 other tissues See more
Orthologs

Genomic context

See BLOC1S5 in Genome Data Viewer
Location:
6p24.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (8013567..8064414, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (8013800..8064647, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene bone morphogenetic protein 6 Neighboring gene BLOC1S5-TXNDC5 readthrough (NMD candidate) Neighboring gene thioredoxin domain containing 5 Neighboring gene EEF1E1-BLOC1S5 readthrough (NMD candidate) Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 pseudogene 1 Neighboring gene small Cajal body-specific RNA 27 Neighboring gene eukaryotic translation elongation factor 1 epsilon 1 Neighboring gene uncharacterized LOC105374910

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough BLOC1S5-TXNDC5

Readthrough gene: BLOC1S5-TXNDC5, Included gene: TXNDC5

Readthrough EEF1E1-BLOC1S5

Readthrough gene: EEF1E1-BLOC1S5, Included gene: EEF1E1

Homology

Clone Names

  • FLJ18427, DKFZp686E2287

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
endosome to melanosome transport IDA
Inferred from Direct Assay
more info
PubMed 
melanosome organization NAS
Non-traceable Author Statement
more info
PubMed 
melanosome transport IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of pigment cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
BLOC-1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BLOC-1 complex IDA
Inferred from Direct Assay
more info
PubMed 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
transport vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
biogenesis of lysosome-related organelles complex 1 subunit 5
Names
BLOC-1 subunit 5
biogenesis of lysosomal organelles complex-1, subunit 5, muted
muted homolog
protein Muted homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001199322.1NP_001186251.1  biogenesis of lysosome-related organelles complex 1 subunit 5 isoform 2

    See identical proteins and their annotated locations for NP_001186251.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an additional internal exon, resulting in the use of an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct and shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AA653396, AL096800, BC119645, DA635930
    UniProtKB/Swiss-Prot
    Q8TDH9
    Conserved Domains (1) summary
    pfam14942
    Location:2112
    Muted; Organelle biogenesis, Muted-like protein
  2. NM_001199323.1NP_001186252.1  biogenesis of lysosome-related organelles complex 1 subunit 5 isoform 3

    See identical proteins and their annotated locations for NP_001186252.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct and shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AA653396, AL096800, BM829259, DA635930
    Consensus CDS
    CCDS75394.1
    UniProtKB/TrEMBL
    A0A0A0MTN6
    Related
    ENSP00000445215.2, ENST00000543936.7
    Conserved Domains (1) summary
    pfam14942
    Location:3685
    Muted; Organelle biogenesis, Muted-like protein
  3. NM_201280.3NP_958437.1  biogenesis of lysosome-related organelles complex 1 subunit 5 isoform 1

    See identical proteins and their annotated locations for NP_958437.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AA653396, AF426434, AL096800
    Consensus CDS
    CCDS4506.1
    UniProtKB/Swiss-Prot
    Q8TDH9
    Related
    ENSP00000380598.2, ENST00000397457.7
    Conserved Domains (1) summary
    pfam14942
    Location:36176
    Muted; Organelle biogenesis, Muted-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    8013567..8064414 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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